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We consider the scenario where important signals are not strong enough to be separable from a large amount of noise. Such weak signals commonly exist in large-scale data analysis and play vital roles in many biomedical applications.…

Methodology · Statistics 2022-01-26 X. Jessie Jeng , Yifei Hu

This paper addresses the challenge of efficiently capturing a high proportion of true signals for subsequent data analyses when sample sizes are relatively limited with respect to data dimension. We propose the signal missing rate as a new…

Methodology · Statistics 2018-08-30 X. Jessie Jeng , Teng Zhang , Jung-Ying Tzeng

Genome-wide association studies (GWAS) have led to the discovery of numerous single nucleotide polymorphisms (SNPs) associated with various phenotypes and complex diseases. However, the identified genetic variants do not fully explain the…

Methodology · Statistics 2025-07-09 Dayeon Jung , Yewon Kim , Junyong Park

Variable selection methods have been developed in linear regression to provide sparse solutions. Recent studies have focused on further interpretations on the sparse solutions in terms of false positive control. In this paper, we consider…

Statistics Theory · Mathematics 2019-11-25 X. Jessie Jeng , Xiongzhi Chen

Conducting genome-wide association studies (GWAS) in copy number variation (CNV) level is a field where few people involves and little statistical progresses have been achieved, traditional methods suffer from many problems such as batch…

Methodology · Statistics 2020-11-17 Han Wang , Changhu Wang , Linjie Wu , Ruibin Xi

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Modern bio-technologies have produced a vast amount of high-throughput data with the number of predictors far greater than the sample size. In order to identify more novel biomarkers and understand biological mechanisms, it is vital to…

Machine Learning · Statistics 2018-05-18 Kevin He , Jian Kang , Hyokyoung Grace Hong , Ji Zhu , Yanming Li , Huazhen Lin , Han Xu , Yi Li

Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so…

Genomics · Quantitative Biology 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

The family-wise error rate (FWER) has been widely used in genome-wide association studies. With the increasing availability of functional genomics data, it is possible to increase the detection power by leveraging these genomic functional…

Methodology · Statistics 2020-12-25 Huijuan Zhou , Xianyang Zhang , Jun Chen

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

Genomics · Quantitative Biology 2024-11-19 Yuzhou Jiang , Erman Ayday

Covariance-based data processing is widespread across signal processing and machine learning applications due to its ability to model data interconnectivities and dependencies. However, harmful biases in the data may become encoded in the…

Machine Learning · Computer Science 2025-01-15 Andrea Cavallo , Madeline Navarro , Santiago Segarra , Elvin Isufi

For the vast majority of genome wide association studies (GWAS) published so far, statistical analysis was performed by testing markers individually. In this article we present some elementary statistical considerations which clearly show…

Applications · Statistics 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

Motivated by the gene co-expression pattern analysis, we propose a novel sample quantile-based contingency (squac) statistic to infer quantile associations conditioning on covariates. It features enhanced flexibility in handling variables…

Methodology · Statistics 2018-08-27 Jichun Xie , Ruosha Li

We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…

Genomics · Quantitative Biology 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

Feature selection from a large number of covariates (aka features) in a regression analysis remains a challenge in data science, especially in terms of its potential of scaling to ever-enlarging data and finding a group of scientifically…

Machine Learning · Statistics 2020-02-10 Yiying Fan , Jiayang Sun

The development of next generation sequencing (NGS) technology and genotype imputation methods enabled researchers to measure both common and rare variants in genome-wide association studies (GWAS). Statistical methods have been proposed to…

Methodology · Statistics 2018-12-14 XIaoyu Cai , Lo-Bin Chang , Chi Song

Weak signal identification and inference are very important in the area of penalized model selection, yet they are under-developed and not well-studied. Existing inference procedures for penalized estimators are mainly focused on strong…

Methodology · Statistics 2016-11-16 Peibei Shi , Annie Qu

Sure Independence Screening is a fast procedure for variable selection in ultra-high dimensional regression analysis. Unfortunately, its performance greatly deteriorates with increasing dependence among the predictors. To solve this issue,…

Methodology · Statistics 2018-11-15 Yixin Wang , Stefan Van Aelst

Accurately estimating the proportion of true signals among a large number of variables is crucial for enhancing the precision and reliability of scientific research. Traditional signal proportion estimators often assume independence among…

Statistics Theory · Mathematics 2026-05-15 Jingtian Bai , Xinge Jessie Jeng

We present an alternative method for genome-wide association studies (GWAS) that is more powerful than the regular GWAS method for locus detection. The regular GWAS method suffers from a substantial multiple-testing burden because of the…

Applications · Statistics 2018-12-19 William Denault , Håkon K. Gjessing , Julius Juodakis , Bo Jacobsson , Astanand Jugessur
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